Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.745803_745805delCA2635153094GEMIN4c.2240_2242del (p.Phe747del)
c.2207_2209del (p.Phe736del)
c.2252_2254del (p.Phe751del)
 gnomAD v4
17g.745804A=CA2242474421GEMIN4c.2239T= (p.Phe747=)
c.2206T= (p.Phe736=)
c.2251T= (p.Phe751=)
17g.745804A>CCA397504254GEMIN4c.2239T>G (p.Phe747Val)
c.2206T>G (p.Phe736Val)
c.2251T>G (p.Phe751Val)
17g.745804A>GCA397504253GEMIN4c.2239T>C (p.Phe747Leu)
c.2206T>C (p.Phe736Leu)
c.2251T>C (p.Phe751Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.745804A>TCA397504252GEMIN4c.2239T>A (p.Phe747Ile)
c.2206T>A (p.Phe736Ile)
c.2251T>A (p.Phe751Ile)
 gnomAD v4
17g.745805G>ACA8262452GEMIN4c.2238C>T (p.Thr746=)
c.2205C>T (p.Thr735=)
c.2250C>T (p.Thr750=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745805G>CCA497384407GEMIN4c.2238C>G (p.Thr746=)
c.2205C>G (p.Thr735=)
c.2250C>G (p.Thr750=)
17g.745805G=CA2242474422GEMIN4c.2238C= (p.Thr746=)
c.2205C= (p.Thr735=)
c.2250C= (p.Thr750=)
17g.745805G>TCA497384406GEMIN4c.2238C>A (p.Thr746=)
c.2205C>A (p.Thr735=)
c.2250C>A (p.Thr750=)
17g.745806G>ACA397504255GEMIN4c.2237C>T (p.Thr746Ile)
c.2204C>T (p.Thr735Ile)
c.2249C>T (p.Thr750Ile)
 gnomAD v4
17g.745806G>CCA397504256GEMIN4c.2237C>G (p.Thr746Ser)
c.2204C>G (p.Thr735Ser)
c.2249C>G (p.Thr750Ser)
17g.745806G>TCA397504257GEMIN4c.2237C>A (p.Thr746Asn)
c.2204C>A (p.Thr735Asn)
c.2249C>A (p.Thr750Asn)
 gnomAD v4
17g.745807T>ACA397504258GEMIN4c.2236A>T (p.Thr746Ser)
c.2203A>T (p.Thr735Ser)
c.2248A>T (p.Thr750Ser)
17g.745807T>CCA397504259GEMIN4c.2236A>G (p.Thr746Ala)
c.2203A>G (p.Thr735Ala)
c.2248A>G (p.Thr750Ala)
17g.745807T>GCA397504260GEMIN4c.2236A>C (p.Thr746Pro)
c.2203A>C (p.Thr735Pro)
c.2248A>C (p.Thr750Pro)
17g.745808C>ACA397504261GEMIN4c.2235G>T (p.Glu745Asp)
c.2202G>T (p.Glu734Asp)
c.2247G>T (p.Glu749Asp)
17g.745808C=CA2242474423GEMIN4c.2235G= (p.Glu745=)
c.2202G= (p.Glu734=)
c.2247G= (p.Glu749=)
17g.745808C>GCA397504262GEMIN4c.2235G>C (p.Glu745Asp)
c.2202G>C (p.Glu734Asp)
c.2247G>C (p.Glu749Asp)
 dbSNP gnomAD v3 gnomAD v4
17g.745808C>TCA497384412GEMIN4c.2235G>A (p.Glu745=)
c.2202G>A (p.Glu734=)
c.2247G>A (p.Glu749=)
 gnomAD v4
17g.745809T>ACA397504263GEMIN4c.2234A>T (p.Glu745Val)
c.2201A>T (p.Glu734Val)
c.2246A>T (p.Glu749Val)
17g.745809T>CCA397504264GEMIN4c.2234A>G (p.Glu745Gly)
c.2201A>G (p.Glu734Gly)
c.2246A>G (p.Glu749Gly)
17g.745809T>GCA397504265GEMIN4c.2234A>C (p.Glu745Ala)
c.2201A>C (p.Glu734Ala)
c.2246A>C (p.Glu749Ala)
 dbSNP gnomAD v3 gnomAD v4
17g.745809T=CA2242474424GEMIN4c.2234A= (p.Glu745=)
c.2201A= (p.Glu734=)
c.2246A= (p.Glu749=)
17g.745810C>ACA397504267GEMIN4c.2233G>T (p.Glu745Ter)
c.2200G>T (p.Glu734Ter)
c.2245G>T (p.Glu749Ter)
17g.745810C=CA2242474425GEMIN4c.2233G= (p.Glu745=)
c.2200G= (p.Glu734=)
c.2245G= (p.Glu749=)
17g.745810C>GCA397504268GEMIN4c.2233G>C (p.Glu745Gln)
c.2200G>C (p.Glu734Gln)
c.2245G>C (p.Glu749Gln)
17g.745810C>TCA397504266GEMIN4c.2233G>A (p.Glu745Lys)
c.2200G>A (p.Glu734Lys)
c.2245G>A (p.Glu749Lys)
 dbSNP gnomAD v2 gnomAD v4
17g.745811A>CCA497384420GEMIN4c.2232T>G (p.Ala744=)
c.2199T>G (p.Ala733=)
c.2244T>G (p.Ala748=)
17g.745811A>GCA497384419GEMIN4c.2232T>C (p.Ala744=)
c.2199T>C (p.Ala733=)
c.2244T>C (p.Ala748=)
 gnomAD v4
17g.745811A>TCA497384418GEMIN4c.2232T>A (p.Ala744=)
c.2199T>A (p.Ala733=)
c.2244T>A (p.Ala748=)
17g.745812G>ACA397504269GEMIN4c.2231C>T (p.Ala744Val)
c.2198C>T (p.Ala733Val)
c.2243C>T (p.Ala748Val)
17g.745812G>CCA397504270GEMIN4c.2231C>G (p.Ala744Gly)
c.2198C>G (p.Ala733Gly)
c.2243C>G (p.Ala748Gly)
 gnomAD v4
17g.745812G>TCA397504271GEMIN4c.2231C>A (p.Ala744Asp)
c.2198C>A (p.Ala733Asp)
c.2243C>A (p.Ala748Asp)
17g.745813C>ACA397504272GEMIN4c.2230G>T (p.Ala744Ser)
c.2197G>T (p.Ala733Ser)
c.2242G>T (p.Ala748Ser)
 gnomAD v4
17g.745813C>GCA397504273GEMIN4c.2230G>C (p.Ala744Pro)
c.2197G>C (p.Ala733Pro)
c.2242G>C (p.Ala748Pro)
17g.745813C>TCA397504274GEMIN4c.2230G>A (p.Ala744Thr)
c.2197G>A (p.Ala733Thr)
c.2242G>A (p.Ala748Thr)
 gnomAD v4
17g.745814A=CA2242474426GEMIN4c.2229T= (p.Asn743=)
c.2196T= (p.Asn732=)
c.2241T= (p.Asn747=)
17g.745814A>CCA397504275GEMIN4c.2229T>G (p.Asn743Lys)
c.2196T>G (p.Asn732Lys)
c.2241T>G (p.Asn747Lys)
17g.745814A>GCA497384427GEMIN4c.2229T>C (p.Asn743=)
c.2196T>C (p.Asn732=)
c.2241T>C (p.Asn747=)
 dbSNP gnomAD v2 gnomAD v4
17g.745814A>TCA397504276GEMIN4c.2229T>A (p.Asn743Lys)
c.2196T>A (p.Asn732Lys)
c.2241T>A (p.Asn747Lys)
17g.745815T>ACA397504277GEMIN4c.2228A>T (p.Asn743Ile)
c.2195A>T (p.Asn732Ile)
c.2240A>T (p.Asn747Ile)
17g.745815T>CCA8262453GEMIN4c.2228A>G (p.Asn743Ser)
c.2195A>G (p.Asn732Ser)
c.2240A>G (p.Asn747Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745815T>GCA397504278GEMIN4c.2228A>C (p.Asn743Thr)
c.2195A>C (p.Asn732Thr)
c.2240A>C (p.Asn747Thr)
17g.745815T=CA2242474427GEMIN4c.2228A= (p.Asn743=)
c.2195A= (p.Asn732=)
c.2240A= (p.Asn747=)
17g.745816T>ACA397504279GEMIN4c.2227A>T (p.Asn743Tyr)
c.2194A>T (p.Asn732Tyr)
c.2239A>T (p.Asn747Tyr)
17g.745816T>CCA397504280GEMIN4c.2227A>G (p.Asn743Asp)
c.2194A>G (p.Asn732Asp)
c.2239A>G (p.Asn747Asp)
 gnomAD v4
17g.745816T>GCA397504281GEMIN4c.2227A>C (p.Asn743His)
c.2194A>C (p.Asn732His)
c.2239A>C (p.Asn747His)
17g.745817G>ACA497384432GEMIN4c.2226C>T (p.Ala742=)
c.2193C>T (p.Ala731=)
c.2238C>T (p.Ala746=)
 gnomAD v4
17g.745817G>CCA497384433GEMIN4c.2226C>G (p.Ala742=)
c.2193C>G (p.Ala731=)
c.2238C>G (p.Ala746=)
 dbSNP gnomAD v2 gnomAD v4
17g.745817G=CA2242474428GEMIN4c.2226C= (p.Ala742=)
c.2193C= (p.Ala731=)
c.2238C= (p.Ala746=)

Number of alleles fetched